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NCT04875416Active, not recruiting

Phenotype, Genotype and Biomarkers 2

Source: ClinicalTrials.gov · Last updated 15 Jun 2026

Brief summary (registry, in English)

The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA) and multisystem proteinopathy (MSP). More precisely, the investigator wants to identify the links that exist between the disease phenotype (phenotype refers to observable signs and symptoms) and the disease genotype (genotype refers to your genetic information). The investigator also wants to identify biomarkers of ALS and related diseases.

Status (registry)
Active, not recruiting
Study type
Observational
Enrollment
217 (actual)
First submitted
14 Apr 2021
Start date
8 Jan 2021
Primary completion date
30 Sept 2031
Lead sponsor
University of Miami
NCT number
NCT04875416

What you commit to

  • Study type: Observational
  • Participants enrolled: 217
  • From 8 Jan 2021 to the primary completion date, 30 Sept 2031
  • 4 sites in 2 countries
  • Visits and tests: ask the trial team, the registry does not list them

Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.

Who cannot take part

Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.

Other illness

  • Subjects with a condition or who are in a situation which, in the PI's opinion, could confound the study finding or may interfere significantly with the individual's participation and compliance with the study protocol -- including but not limited to neurological, psychological and/or medical conditions
  • Subjects with a condition or who are in a situation which, in the PI's opinion, could confound the study finding or may interfere significantly with the individual's participation and compliance with the study protocol -- including but not limited to neurological, psychological and/or medical conditions

Who the study is looking for

  • Clinical diagnosis or suspicion of ALS or a related disorder, including, but not limited to, ALS-FTD, PLS, HSP, FTD, Multisystem Proteinopathy (MSP) and PMA.
  • Subject is able and willing to comply with study procedures
  • Family member of an enrolled affected primary participant

Age in the registry: 7 years to - · Sex: All · Accepts healthy volunteers

Full criteria on ClinicalTrials.gov

Sites (4)

Sites in registry order. Pick your city on the disease page to sort them by distance.

SiteCityCountrySite status
University of Kansas Medical Center
Coordinator of this site? Confirm its status
Kansas CityUnited StatesUnknown status
University of Miami
Coordinator of this site? Confirm its status
MiamiUnited StatesUnknown status
University of Pennsylvania
Coordinator of this site? Confirm its status
PhiladelphiaUnited StatesUnknown status
University of Cape Town
Coordinator of this site? Confirm its status
Cape TownSouth AfricaUnknown status

This page is information, not medical advice. Discuss any trial with your doctor.